Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025911 | SCV001188191 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-11 | criteria provided, single submitter | clinical testing | The c.700_713del14 pathogenic mutation, located in coding exon 2 of the BLM gene, results from a deletion of 14 nucleotides at nucleotide positions 700 to 713, causing a translational frameshift with a predicted alternate stop codon (p.D234Rfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Invitae | RCV001215519 | SCV001387269 | pathogenic | Bloom syndrome | 2023-10-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp234Argfs*2) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 826769). For these reasons, this variant has been classified as Pathogenic. |